Linked Data
ClinVar Variation Id:
9494
ClinVar RCV Id:
RCV000010102
dbSNP Id:
rs137854501
gnomAD v3:
9-104786940-G-A
gnomAD v4:
9-104786940-G-A
PubMed:
PMID:11476965
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.104786940G>A , CM000671.2:g.104786940G>A | GRCh38 |
| NC_000009.11:g.107549221G>A , CM000671.1:g.107549221G>A | GRCh37 |
| NC_000009.10:g.106589042G>A | NCBI36 |
| NG_007981.1:g.146216C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374736.8:c.6241C>T MANE Select | ENSP00000363868.3:p.Arg2081Trp | |
| ENST00000678995.1:c.6247C>T | ENSP00000504612.1:p.Arg2083Trp | |
| ENST00000374736.7:c.6241C>T | ENSP00000363868.3:p.Arg2081Trp | |
| NM_005502.3:c.6241C>T | NP_005493.2:p.Arg2081Trp | |
| XM_005251773.1:c.6247C>T | XP_005251830.1:p.Arg2083Trp | |
| XM_005251776.1:c.6067C>T | XP_005251833.1:p.Arg2023Trp | |
| XM_011518339.1:c.6322C>T | XP_011516641.1:p.Arg2108Trp | |
| XM_011518340.1:c.6322C>T | XP_011516642.1:p.Arg2108Trp | |
| XM_011518341.1:c.6316C>T | XP_011516643.1:p.Arg2106Trp | |
| XM_011518342.1:c.5884C>T | XP_011516644.1:p.Arg1962Trp | |
| XM_011518343.1:c.6286-550C>T | XP_011516645.1:n.6286-550C>T | |
| XM_005251773.3:c.6247C>T | XP_005251830.1:p.Arg2083Trp | |
| XM_005251776.3:c.6067C>T | XP_005251833.1:p.Arg2023Trp | |
| XM_011518339.3:c.6322C>T | XP_011516641.1:p.Arg2108Trp | |
| XM_011518340.3:c.6322C>T | XP_011516642.1:p.Arg2108Trp | |
| XM_011518341.3:c.6316C>T | XP_011516643.1:p.Arg2106Trp | |
| XM_011518342.3:c.5884C>T | XP_011516644.1:p.Arg1962Trp | |
| XM_017014378.2:c.6322C>T | XP_016869867.1:p.Arg2108Trp | |
| XM_017014379.2:c.6322C>T | XP_016869868.1:p.Arg2108Trp | |
| XM_017014380.2:c.6322C>T | XP_016869869.1:p.Arg2108Trp | |
| XM_017014381.2:c.6322C>T | XP_016869870.1:p.Arg2108Trp | |
| XM_017014382.2:c.6184C>T | XP_016869871.1:p.Arg2062Trp | |
| XR_001746223.1:n.6599-550C>T | ||
| NM_005502.4:c.6241C>T MANE Select | NP_005493.2:p.Arg2081Trp |